75 results about "GENETIC ABNORMALITY" patented technology

In a first aspect, the present invention features methods for differentiating DNA species originating from different individuals in a biological sample. These methods may be used to differentiate or detect fetal DNA in a maternal sample or to differentiate DNA of an organ donor from DNA of an organ recipient. In preferred embodiments, the DNA species are differentiated by observing epigenetic differences in the DNA species such as differences in DNA methylation. In a second aspect, the present invention features methods of detecting genetic abnormalities in a fetus by detecting fetal DNA in a biological sample obtained from a mother. In a third aspect, the present invention features methods for differentiating DNA species originating from an organ donor from those of an organ recipient. In a fourth aspect, the present invention features kits for differentiating DNA species originating from different individuals in a biological sample.

The present invention provides assay systems and related methods for determining genetic abnormalities in mixed samples comprising cell free DNA from both normal and putative genetically atypical cells. Exemplary mixed samples for analysis using the assay systems of the invention include samples comprising both maternal and fetal cell free DNA and samples that contain DNA from normal cells and circulating cancerous cells.

This invention provides compositions and methods for detecting differences in copy number of a target polynucleotide. In some cases, the methods and compositions provided herein are useful for diagnosis of fetal genetic abnormalities, when the starting sample is maternal tissue (e.g., blood, plasma). The methods and materials described apply techniques for allowing detection of small, but statistically significant, differences in polynucleotide copy number.

A non-invasive screening or diagnostic method for determining the likelihood of a fetus with a genetic abnormality or a potential pregnancy complication, which utilizes a liquid blood sample from a pregnant woman. Antibodies specific to a section of histone 3.1 which is exposed to a far greater extent in chromatin of fetal origin than in chromatin of maternal origin are used to sequester and isolate such fetal nucleosomes including the associated fetal DNA. Following isolation/enrichment of such fetal DNA, genetic analysis is carried out using known molecular diagnostics.

The present invention provides assay systems and related methods for determining genetic abnormalities in mixed samples comprising cell free DNA from both normal and putative genetically atypical cells. Exemplary mixed samples for analysis using the assay systems of the invention include samples comprising both maternal and fetal cell free DNA and samples that contain DNA from normal cells and circulating cancerous cells.

The invention provides methods for detecting and monitoring diseases associated with genetic abnormalities in a subject.

The present invention is directed to compositions and methods for detecting genetic abnormalities. The present invention encompasses methods and compositions for comparing alleles in a sample containing both maternal and fetal nucleic acids in order to identify genetic abnormalities.

The present invention relates to novel neurosteroid derivatives with anti-apoptotic, neuroprotective and neurogenic properties that act on the nervous system as well as methods for making the same and their applications in the treatment and/or prevention or amelioration of neurodegenerative diseases related to neuronal apoptosis or neuronal injury, or conditions related to or resulting from apoptosis, including but not limited to Alzheimer's disease, Parkinson's disease, Huntington's disease, multiple sclerosis and amyotrophic lateral sclerosis (ALS), retinal degeneration and detachment, peripheral neuropathy caused by genetic abnormalities, diabetes, polio, herpes, AIDS and chemotherapy, brain trauma, or ischemia and stroke. The active compounds are represented by Formula (I): wherein R¹, R², R³, R⁴, R⁵, R⁶, R⁷, A, B, X, Y and Z are defined in the description of the invention. The present invention also includes compositions which comprise one or more of the compounds of Formula (I).

The present invention provides methods, antibodies and kits useful for detecting the presence of a fetal cell and/or fetal nucleic acids in a biological sample obtained from a maternal host. It also provides methods and kits for isolating fetal nucleic acid from maternal cervical mucus samples, and for testing or screening the isolated fetal nucleic acid for genetic abnormalities in fetuses.

The present invention provides methods of identifying a genetic abnormality such as mutation in EGFR or KRAS or ALK which is associated with the management of lung cancer or diagnosing, prognosing or monitoring the treatment of pre-cancerous conditions of the lung, such as bronchial dysplasia or atypical alveolar hyperplasia (AAH), through the detection of at least one volatile organic compound indicative of these states.

A system, method and program product, the method comprising, in one embodiment, providing a secure testing service for patient's identification and payment data encrypted at the data level, non-identifiable method for a patient to have a genetic tests to identify variants or mutations of their genes or combinations of genes that predispose the patient to develop or have an identified disease, comprising: obtaining electronically genomic information for a patient comprising at least one of, (a) DNA information, (b) RNA information, (c) complementary DNA or RNA information, (d) transfer RNA (tRNA) information (e) messenger RNA (mRNA) information, and (f) Expressed Sequence Tags (EST) to identify an abnormal gene; searching by one or more computers electronic databases using the identified abnormal gene to obtain genetic sequencing and basic research, patient predispositions, and pharmacognetics that predict the response and reaction of patients with identified genetic abnormalities related to the identified abnormal gene and individual medications that may be prescribed relating to the identified abnormal gene or a relationship with said identified abnormal gene; performing an update search on at least a periodic basis to learn about subsequent genomic research developments and treatments for the identified abnormal gene, specific genes with variants or mutated genes identified in the genetic test; sending electronically via an Internet communication link data comprising or derived from the searching step and the update search to the patient or a third party; and with the sending step performed using a privacy component that prevents transmission to any third party unless predetermined permission clearance data is in the system.

The present invention provides assay systems and related methods for determining genetic abnormalities in mixed samples comprising cell free DNA from both normal and putative genetically atypical cells. Exemplary mixed samples for analysis using the assay systems of the invention include samples comprising both maternal and fetal cell free DNA and samples that contain DNA from normal cells and circulating cancerous cells.

The present invention provides comparative genomic hybridization methods for detecting and mapping chromosomal or genetic abnormalities associated with various diseases or with predisposition to various diseases, or to detecting the phenomena of large scale copy number variants. The method includes hybridization with one or more probes for detecting balanced translocations. Such probes may be complementary to the moving genomic segment which is translocated or may be complementary to the translocation break point.

The invention provides methods for non-invasive prenatal testing that allow for detecting risk of chromosomal and subchromosomal abnormalities, including but not limited to aneuploidies, microdeletions and microduplications, insertions, translocations, inversions and small-size mutations including point mutations and mutational signatures. The methods of the invention utilize a pool of TArget Capture Sequences (TACS) to enrich for sequences of interest in a mixed sample containing both maternal and fetal DNA, followed by massive parallel sequencing and statistical analysis of the enriched population to thereby detect the risk of a genetic abnormality in the fetal DNA. Kits for carrying out the methods of the invention are also provided.

The present invention includes methods for treating a FLT3 mutated proliferative disorder comprising: measuring expression of a mutated FLT3 and one or more genetic abnormalities in a sample obtained from a tumor sample obtained from the patient, wherein the presence of the one or more genetic abnormalities indicates that the patient has a poor prognosis; and administering to the patient a therapeutically effective amount of crenolanib or a pharmaceutically acceptable salt thereof, wherein the crenolanib increases a chance of survival of the patient having both the mutated FLT3 and the one or more genetic abnormalities, wherein the crenolanib, as shown below, is administered to a subject suffering from said disorder:

The present invention discloses a genetic abnormality screening method for embryos. The present invention discloses a device. The device comprises a detection device, a genetic disease screening device and a chromosome abnormality screening device; the detection device is used for acquiring target area data of an embryo father, an embryo mother, a propositus and an embryo, and full genome data ofthe embryo; the target area data are genotypes of SNP loci in genetic disease related genes and peripheral regions; the genetic disease screening device is used for screening genetic diseases: effective SNP loci are selected according to target area data of a father and target area data of a mother; haplotypes are established according to genotypes of the effective SNP loci of the embryo father, embryo mother and propositus, and then genetic diseases are screened by performing haplotype linkage analysis on the embryo; and the chromosome abnormality screening device is used for screening chromosome abnormality and judging whether the embryo has chromosome abnormality according to the whole genome data of the embryo. The genetic abnormality screening method for embryos has great applicationand popularization value for genetic screening before embryo implantation.

Methods, systems, and computer-readable media are disclosed for calculating corrected amplicon coverages. One method includes: mapping a plurality of reads of a plurality of amplicons based on amplified target regions of a sample suspected of having one or more genetic abnormalities to a reference sequence that includes one or more nucleic acid sequences corresponding to the amplified target regions; calculating amplicon coverages and total reads, wherein amplicon coverages is a number of reads mapped to an amplicon, and total reads is a number of mapped reads; and calculating corrected amplicon coverages based on the calculated amplicon coverages and calculated total reads by applying a batch effect correction.